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Links from Gene

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
OST4
(F19L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD1, ADCY3
+65 more
Duplication
not provided
GUncertain significance
ABHD1, AGBL5
+10 more
Duplication
not provided
GUncertain significance
ADGRF3, AGBL5
+72 more
Duplication
not provided
GUncertain significance
LOC129933352, OST4
(I9M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EMILIN1, AGBL5
+10 more
Copy number loss
Ritscher-Schinzel syndrome 4
GUncertain significance
OTOF, OXER1
+131 more
Copy number gain
See cases
GPathogenic
DNAJC27, DNAJC5G
+131 more
Copy number gain
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ABHD1, ADGRF3
+142 more
Copy number loss
See cases
GUncertain significance
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
ABHD1, ADGRF3
+99 more
Copy number gain
See cases
GUncertain significance
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